G56C (p.Gly56Cys) variant of MYH7 (Myosin-7)
G56C (p.Gly56Cys) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes published literature and structural context.
G56C (p.Gly56Cys) variant details
- p.Gly56Cys
- rs759500431
- ClinGen CA389053689
- NCI-TCGA Cosmic COSV6251
- ClinVar RCV001186283
- Uncertain significance
- Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.549
- AlphaMissense 0.09
- MetaLR 0.74
- MetaSVM 0.54
- PolyPhen-2 0.00
- SIFT 0.03
- EVE 0.36
- ClinVar: Uncertain significance (Cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)